A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230962



Internal ID20798002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62817108..66057684hg38UCSC Ensembl
chr12:63210888..66451464hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg383240577
hg193240577
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6584270
Supporting Variants
Samples
Known GenesAVPR1A, C12orf56, C12orf66, DPY19L2, FLJ41278, GNS, HMGA2, LEMD3, MIR548C, MIR548Z, MIR6074, MSRB3, PPM1H, RASSF3, RPSAP52, SRGAP1, TBC1D30, TBK1, TMEM5, WIF1, XPOT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230962
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00014


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